Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedrén S, Nordenskjöld M, Nishimura G, Grigelioniene G

Am. J. Med. Genet. A 170A (1) 266-269 [2016-01-00; online 2015-10-01]

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PubMed 26420734

DOI 10.1002/ajmg.a.37387

Crossref 10.1002/ajmg.a.37387